Article
A neuropathological study at autopsy of early onset spinocerebellar ataxia 6.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jun 2010
Wang Xuejing, Wang Hui, Xia Yujun, Jiang Hong, Shen Lu, Wang Shoubiao, Shen Ruowu, Huang Liang, Wang Junling, Xu Qian, Li Xiaohui, Luo Xuegang, Tang Beisha
Abstract excerpt
Spinocerebellar ataxia type 6 (SCA6) is a late-onset, autosomal dominantly inherited ataxic disorder, and most previous clinical studies consider SCA6 to be a "pure" cerebellar ataxia. We carried out a detailed pathoanatomical study at autopsy of two patients, brother and sister, with genetically confirmed SCA6. The disease in both patients was early onset and short, which is atypical for SCA6. We observed severe...
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